NPHS2 stomatin family member, podocin
Ultimo aggiornamento 18 Apr 2023
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L NPHS2 gene provides instructions for making a protein called podocin. Podocin is primarily found in the kidneys, which are organs that filter waste products from the blood and remove them in urine. Specifically, podocin is found in cells called podocytes, which are located in specialized kidney structures called glomeruli. Podocin is located at the cell surface in the area between two podocytes called the slit diaphragm. The slit diaphragm is known as a filtration barrier because it captures proteins in blood so that they remain in the body while allowing other molecules like sugars and salts to be excreted in urine. Podocin likely helps bring other proteins that are needed for a functional slit diaphragm to the podocyte cell surface. The protein also is involved with podocyte cell signaling, helping the cell adapt to changes that occur during the filtration process.
Normal function
L NPHS2 gene provides instructions for making a protein called podocin. Podocin is primarily found in the kidneys, which are organs that filter waste products from the blood and remove them in urine. Specifically, podocin is found in cells called podocytes, which are located in specialized kidney structures called glomeruli. Podocin is located at the cell surface in the area between two podocytes called the slit diaphragm. The slit diaphragm is known as a filtration barrier because it captures proteins in blood so that they remain in the body while allowing other molecules like sugars and salts to be excreted in urine. Podocin likely helps bring other proteins that are needed for a functional slit diaphragm to the podocyte cell surface. The protein also is involved with podocyte cell signaling, helping the cell adapt to changes that occur during the filtration process.
Conditions referring to this gene or chromosome
Altri nomi
nephrosis 2, idiopathic, steroid-resistant (podocin)
NPHS2 podocin
PDCN
podocin isoform 1
podocin isoform 2
SRN1
Related patient information and medicines
Patient information leaflet
Retinoblastoma
Retinoblastoma è an uncommon cancer of the eye which occurs in children under the age of 5. This leaflet describes retinoblastoma. It discusses the symptoms and signs of retinoblastoma and the management options children with retinoblastoma may be offered. What is retinoblastoma. Retinoblastoma is a tumour which usually affects children aged.
Patient information leaflet
Vivere con una condizione a lungo termine
A long-term condition cannot be cured but its symptoms and complications may be controlled con treatment. Examples are arthritis, asthma, diabetes, epilepsy and high blood pressure. Long-term condition... What is a long-term condition. A long-term condition is an illness that cannot be cured but can usually be controlled with medicines or other.
Patient information leaflet
Porfiria
L porphyrias are a group of disorders in which there is a problem with the production of haem (also spelled heme) within the body. Haem is used to make haemoglobin in red blood cells. Symptoms vary greatly and can include tummy (abdominal) pain, nervous system problems, mental health problems and skin problems. You may need to avoid certain.
Patient information leaflet
Convulsione febbrile
A febrile seizure is a convulsion that occurs in some children with a high temperature (fever). The vast majority of febrile seizures are not serious. Febrile seizures are more common in children who have had a previous febrile seizure (3-5 out of 10 children who h... They are also more common in children with a family history of febrile seizures.
Patient information leaflet
Posso prendere Fenofibrato e Gabapentin insieme?
There are no known significant interactions between fenofibrate and gabapentin. These two medicines work in different ways and are processed by different organs in the body. Seek urgent medical help if you experience shallow breathing or ... Mental health changes - gabapentin A small number of people may experience suicidal thoughts or changes in.
Patient information leaflet
malattia di Alzheimer
malattia di Alzheimer è a cause of dementia. There is no cure and it can cause a great deal of distress for those affected and their families. However, early diagnosis is important because there is a great deal of support as well as medication that can help. What is Alzheimer's disease. Alzheimer's disease is the most common cause of dementia..
Ulteriori letture e riferimenti
- NPHS2 stomatin family member, podocin; MedlinePlus, National Library of Medicine.
- Grahammer F, Schell C, Huber TB. The podocyte slit diaphragm--from a thin grey line to a complex signalling hub. Nat Rev Nephrol. 2013 Oct;9(10):587-98. doi: 10.1038/nrneph.2013.169. Epub 2013 Sep 3.
- Machuca E, Benoit G, Nevo F, Tete MJ, Gribouval O, Pawtowski A, Brandstrom P, Loirat C, Niaudet P, Gubler MC, Antignac C. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol. 2010 Jul;21(7):1209-17. doi: 10.1681/ASN.2009121309. Epub 2010 May 27.
- Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27.
- Wang JJ, Mao JH. The etiology of congenital nephrotic syndrome: current status and challenges. World J Pediatr. 2016 May;12(2):149-58. doi: 10.1007/s12519-016-0009-y. Epub 2016 Mar 9.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.